I am a mom of 3 beautiful kids. Marley has autism and left hemiparesis Cerebral Palsy. Skylar has recovered from sensory processing disorder and my boy, Xander, is neurotypical with severe, life-threatening food allergies.

Sunday, July 13, 2014

I have always had a lot of unanswered questions.There were a lot of pieces to the puzzle that
didn’t seem to make sense until I learned about Cerebral Folate Deficiency and
its association with autism.

Cerebral Folate Deficiency (CFD) is a relatively newly
identified disorder in which there is low 5MTHF (5-methyltetrahydrofolate)
in the CSF (cerebrospinal fluid) but normal 5-MTHF in the blood.5-MTHF is the bioavailable form of folate. Folic acid is the synthetic form of folate
and supplementing with it can often makes problems worse and not better. These kids need the bioavailable form of
folate.When there is not enough,
developmental delays can occur.Symptoms
can manifest as irritability, poor sleep, gross motor problems, seizures and
developmental delay among other symptoms.It often shows itself in young children and regression is typical.Often, but not always, these kids have a smaller
head circumference and CFD is linked to mitochondrial dysfunction in a subset
of children. Cow’s milk down regulates
folate receptor autoantibodies (FRAs), so going dairy free is very important.Folate receptor autoantibodies (FRAs) block the transport of folate into the Cerebral Spinal Fluid and they are being found at an alarming rate in children with autism. FRAs, dairy and mitochondrial dysfunction are not
the only way that CFD occurs.There are
a number of genetic mutations that affect folate metabolism.

I also discovered that the mothers of
these children often cannot break down folic acid themselves due to genetic
reasons.There are several gene
mutations that can lead to this problem.MTHFR is only one of them.The
mother’s shortage of folinic acid sets up their baby for problems in the
womb.Another noteworthy piece of
information is that birth control pills deplete the body of folinic acid, putting
young mothers-to-be at a strict disadvantage.

**Please note that taking folic acid, as
young pregnant mothers-to-be are advised, DOES NOT help.In fact, it may make problems worse because
these mothers cannot break down folic acid, which is the synthetic form of
folate.Instead these pregnant moms
should be taking folinic acid or L-5MTHF. A few prenatals have now started using the
good forms of folate in their prenatals.Thorne is one such company.

Folate is needed to support the metabolism of purines and pyrimidines which are the building blocks of RNA and DNA. They also are also very important for cells to make energy properly. If you are diagnosed with CFD, Leucovorin, a high dose folinic acid, is prescribed because it is a versatile form of folate.

The more I read, the more alarmed I
became.Everything I read was hitting
home in a very scary way.There were so
many red flags in both my & my baby’s history.First I will address what was concerning
about my history.

I had trouble getting pregnant for a year after stopping
birth control pills.Finally, I got
pregnant at age 28 and I was extremely sick during pregnancy.I was hospitalized several times and vomited a minimum of 10 times per day until
my body gave in and my water broke at 33 weeks old.She had a grade 4 IVH (Intraventricular
hemorrhage) at birth. Not enough
folate could explain this occurrence.

Following my first pregnancy with Marley, I had a
miscarriage and then an ectopic pregnancy that ruptured.Both of these could be attributed to not
enough folate.

Then I got pregnant
with my second child, Skylar, and at the advice of an applied kinesiologist, I
started taking L-5MTHF (the broken down form of folate with a methyl donor
attached for better absorption) and I was not as sick.And the baby did much better!!I did go into premature labor with her at 34
weeks but she held on until 39 weeks.Perhaps I was not taking enough L-5MTHF?

When I got pregnant with my third baby, I again took
methylfolate (800mcg), felt better but had lots of contractions.I went into premature labor with him at 29
weeks and was put on best rest until he came at 39 weeks.He is developmentally fine but has severe
food allergies.Again, Perhaps I was not
taking enough L-5MTHF?

More things that are concerning about my folate metabolism:

I have elevated MCH & MVH, which are indicators of
either not enough folate or not enough B12.

I am FOLR2 +/+ (which
will block folate receptors)

I am DHFR +/- (which converts
dihydrofolate into tetrahydrofolate)

I am SLC19A1 +/- (which is a transporter of folate and is
involved in the regulation of intracellular concentrations of folate.)

As for my daughter, there is even more
reason for concern and more red flags:

As I noted before, my daughter had had
a grade 4 IVH (Intraventricular hemorrhage) at
birth.She also has a syrinx in her
spinal cord that likely developed in utero as well.Not enough folate could explain these
problems.

She also has strabismus, which may be attributed to her
brain bleed OR it could be attributed to a Cerebral Folate Deficiency.

Marley was an irritable baby and she didn’t sleep well at
all.She slept through the night for the
first time at 18 months old, but it still was not consistent….a few days on and
several days off.All red flags for CFD.

At age 3, we started her on L-5MTHF (800mcg) and by the next
day, she could walk down steps independently.She was also having hours long screaming tantruming sessions, which
ended with staring spells which we believed to be absent seizures. They stopped when we started the
L-5MTHF.She has been on L-5MTHF ever
since.

When she was age 30 months, the genetics department pointed
out that she had an unusually small head and therefore, was a good candidate
for Rett’s disease, for which they tested her.The test came back negative along with a completely normal microarray.Around this time, she was diagnosed with
severe, low-functioning autism.Low-functioning,
regressive autism is a sign of CFD.

Marley also has genetic markers that indicate problems with
folate metabolism:

She is FOLR1 +/- (which
will block folate receptors)

She is FOLR2 +/-
(which will block folate receptors)

She is DHFR r +/- (which converts
dihydrofolate into tetrahydrofolate)

She is MTHFR A1298C +/- (which converts
5-MTHF to THF)

She is SLC19A1 +/+ (which is a
transporter of folate and is involved in the regulation of intracellular
concentrations of folate.)

Add all this to the fact that she fatigues easily, has
chronic constipation, has tight muscles on her left side, is still
developmentally delayed and has problems with focus and I was concerned. If she did have CFD, she may start to have
seizures once puberty hit.

Since this is a fairly new diagnosis and few mainstream
pediatric neurologists know about CFD being tied to Autism, I had to ask around
to see what doctor would be my best bet with whom to approach with all this
information.We have seen several neurologists
in the past and they have had nothing to offer us at all…..so I wanted to make
this appointment count.

If it turned out that she has Cerebral Folate deficiency,
she would be prescribed Leucovorin, which is high dose calcium-folinic acid in
an effort to bring up her levels of L-5MTHF in her CSF.

I was in luck.I live
in a city with great medical resources and a fabulous, well-known hospital and
there just happens to be a pediatric neurologist on staff that knows about and
understands CFD and it’s link to Autism.I made an appointment.

I don’t have much luck with doctors, but to my surprise and
pleasure, he was both wonderful and knowledgeable…….and concerned.He agreed with all the information I
presented to him and said he wanted to do a lumbar puncture right away to rule
CFD in or out. He said to me:

"Kids with
autism should have a full neurological and metabolic work-up to see if there is
something we can do. Autism is a set of symptoms and if we can find something
treatable to help with their symptoms we should do it."

Yes....after taking Marley to see several neurologists and developmental peds over the years who have tried
to send us out the door with an antidepressant or an anti-psychotic drug, or GI
docs that I had to beg to help my daughter when she was in terrible,
excruciating pain.....that afternoon I hit the jackpot.

He listened. He was interested in what I had done
to take her this far in her development. He said "if we can find something
that is treatable, many of my patients go on to be extraordinary adults. Not
just ordinary....but extraordinary because not only are they functioning
independently but they have extra gifts to share."

And the appointment was made for a lumbar puncture.

I was terrified.

We went into the hospital early in the morning.They used Versed & Fentanyl to sedate
her, but she is hard to sedate and even with the maximum dosage of both
sedatives, she sang to them during the procedure.

Recovery was hard.She was in extreme pain for 2 days.She was dizzy and couldn’t stand.We had her lie flat on her back & pushed fluids like crazy to get
her body to reproduce more spinal fluid to relieve the pressure.By the 3rd day, she had
excruciating headaches that were relieved only when she laid flat on her
back.I was panicked.But the neurologist told me that it can take
some kids a week to recover and to keep pushing fluids and keep her flat on her
back.I did and by day 5, things were
looking up.She was up and around for
about 30 minutes before the headaches set in.By day 6, there were less symptoms.By day 9 she was recovered from the lumbar puncture and the waiting game
for results began.

We were on vacation when I got the call from the pediatric
neuro resident who had done her lumbar puncture.She said ….

“We have about half of Marley’s results in and everything is
normal.”

I was shocked.I said
“Define normal.Tell me her numbers.”

She told me Marley’s 5-MTHF is a 44 (range 40-120).I exclaimed, “THAT’S NOT NORMAL! That is very
low!It is HALF of what it should
be.We want her to be between
78-82.Especially considering she has
been dairy free and supplemented with 5-MTHF almost all her life! Look at the
study published in 2013 by Dr Frye and Dr Rossingol showing that kids with autism
have levels anywhere from low 40’s to 80’s and that combined with FRA’s (Folate
receptor autoantibodies) puts them at a huge disadvantage.See the levels of the kids treated here. They
treated these kids with Leucovorin and the kids showed gains in several areas. See the study here.

The pediatric resident just told me to take my argument to
the attending doctor whom we had met originally. I did….and after hearing my
argument, he agreed with me that she needed to be treated for Cerebral Folate
Deficiency.I think he is still learning
about all of this because I had to tell him the dosage of Leucovorin that is
used to treat CFD and he easily agreed with me after trying to prescribe a much
lower dose.The neurologist said to look
for increased socialization, less emotional meltdowns, more tolerance to foods
(less picky eating) and better gross motor skills with Leucovorin.

All of this information is in the study and in current
literature on CFD and Autism Spectrum Disorders and it left me wondering why
pediatric neurologists are left in the dark on this subject.This is a huge break-through in Autism.And it is TREATABLE! If caught and treated early enough, Leucovorin
can provide significant progress or even a complete recovery of
both neurological and ASD symptoms.

In the 2013 study, 93 children were studied for Folate
Receptor autoantibodies and they were found in 75% of the
children.FRAs are only one cause of
Cerebral Folate Deficiency. From the abstract:“Given these results, empirical
treatment with leucovorin calcium may be a reasonable and non-invasive approach
in FRA-positive children with ASD.”

There is only one lab
that can measure FRAs in blood and they have recently reopened. However, the ONLY way to test for CFD is with a lumbar puncture.

It has become clear to me that our local pediatric
neurologist does not know enough about CFD to treat my daughter appropriately,
so I have made an appointment with one of the doctors that actually wrote the
study.He will see her in a few
months.I hope to have her on Leucovorin very soon and report to him how she is doing.I also know that bringing up
5-MTHF levels in the CSF is a slow process, so I don’t expect over-night
results.Instead I need to look for slow
and steady gains.

I am so hopeful for her future and I will keep you posted on her progress.

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About Me

I am a mom on a mission to bring our daughter back to us from the grips of autism. This journey has shown me the importance of nutrition and supplementation in ASD kids, detoxification, green living and a great support system for healing. I have learned many lessons...some the hard way and I have created this blog to help anyone who may be interested in the lessons we have learned.